MAP3K1 Chromosome 5
Mitogen-activated protein kinase kinase kinase 1
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What This Gene Does
The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers SWIM-type|Mitogen-activated protein kinase kinase kinases"
Locus Type
gene with protein product
Location
5q11.2
Ensembl
ENSG00000095015
Associated Conditions (7)
Inborn genetic diseases
46
XY sex reversal 6
Hearing impairment
MAP3K1-related disorder
Ovarian neoplasm
See cases
Key Variants
RS1423534461
Conflicting classifications of pathogenicity
Inborn genetic diseases, 46, XY sex reversal 6
Health Risk
RS142968004
Conflicting classifications of pathogenicity
46, XY sex reversal 6, Inborn genetic diseases
Health Risk
RS1454725137
Conflicting classifications of pathogenicity
Hearing impairment, 46, XY sex reversal 6
Health Risk
RS189290632
Conflicting classifications of pathogenicity
46, XY sex reversal 6, MAP3K1-related disorder
Health Risk
RS371578161
Conflicting classifications of pathogenicity
46, XY sex reversal 6, 46
Health Risk
RS375262853
Conflicting classifications of pathogenicity
46, XY sex reversal 6, Inborn genetic diseases
Health Risk
RS376808920
Conflicting classifications of pathogenicity
46, XY sex reversal 6, 46
Health Risk
RS549721454
Conflicting classifications of pathogenicity
46, XY sex reversal 6, Inborn genetic diseases
Health Risk
RS560095837
Conflicting classifications of pathogenicity
46, XY sex reversal 6, Inborn genetic diseases
Health Risk
RS56160159
Conflicting classifications of pathogenicity
46, XY sex reversal 6, MAP3K1-related disorder
Health Risk
RS576080629
Conflicting classifications of pathogenicity
46, XY sex reversal 6, 46
Health Risk
RS763246417
Conflicting classifications of pathogenicity
46, XY sex reversal 6, Inborn genetic diseases
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1423534461 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 46, XY sex reversal 6 |
| RS142968004 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, Inborn genetic diseases |
| RS1454725137 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, 46, XY sex reversal 6 |
| RS189290632 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, MAP3K1-related disorder |
| RS371578161 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, 46 |
| RS375262853 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, Inborn genetic diseases |
| RS376808920 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, 46 |
| RS549721454 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, Inborn genetic diseases |
| RS560095837 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, Inborn genetic diseases |
| RS56160159 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, MAP3K1-related disorder |
| RS576080629 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, 46 |
| RS763246417 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, Inborn genetic diseases |
| RS764525244 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, 46 |
| RS765282250 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, Inborn genetic diseases |
| RS770264567 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 46, XY sex reversal 6 |
| RS779149827 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, 46 |
| RS780666910 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 6, 46 |
| RS1561199329 | Health Risk | Likely pathogenic | Ovarian neoplasm, Ovarian neoplasm |
| RS1748194816 | Health Risk | Likely pathogenic | — |
| RS2530964031 | Health Risk | Likely pathogenic | 46, XY sex reversal 6, 46 |
| RS387906788 | Health Risk | Likely pathogenic | 46, XY sex reversal 6, MAP3K1-related disorder |
| RS886041049 | Health Risk | Likely pathogenic | 46, XY sex reversal 6, 46 |
| RS1131692053 | Health Risk | Pathogenic | 46, XY sex reversal 6, 46 |
| RS1131692186 | Health Risk | Pathogenic | 46, XY sex reversal 6, 46 |
| RS1554034036 | Health Risk | Pathogenic | 46, XY sex reversal 6, 46 |
| RS1561193071 | Health Risk | Pathogenic | Ovarian neoplasm, Ovarian neoplasm |
| RS1561198459 | Health Risk | Pathogenic | Ovarian neoplasm, Ovarian neoplasm |
| RS1561199493 | Health Risk | Pathogenic | Ovarian neoplasm, Ovarian neoplasm |
| RS1561204571 | Health Risk | Pathogenic | Ovarian neoplasm, Ovarian neoplasm |
| RS2530926325 | Health Risk | Pathogenic | 46, XY sex reversal 6, 46 |
| RS1579750361 | Health Risk | Pathogenic/Likely pathogenic | 46, XY sex reversal 6, See cases |